Abetalipoproteinemia

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Web Resources for Abetalipoproteinemia
ICD 10 code: E78.6
Genetic Databases
GENE database on Abetalipoproteinemia
Online Mendelian Inheritance in Man (OMIM) on Abetalipoproteinemia
Pharmacogenomics Knowledge Base (pharmGKB) on Abetalipoproteinemia
Catalogue Of Somatic Mutations In Cancer (COSMIC) on Abetalipoproteinemia
Genome information (GenomeNet, KEGG) on Abetalipoproteinemia
SNP database on Abetalipoproteinemia
Protein Knowledgebase (UniProtKB) on Abetalipoproteinemia
Relevant Clinical Literature
Pubmed on Abetalipoproteinemia
RCT with Abetalipoproteinemia
Systematic reviews of Abetalipoproteinemia
Abetalipoproteinemia in N Eng J Med, Lancet, JAMA, BMJ
Abetalipoproteinemia in Cochrane Collaboration
TRIP Database on Abetalipoproteinemia
Google Scholar on Abetalipoproteinemia
Bandolier on Abetalipoproteinemia
UK Guidance
NHS Evidence on Abetalipoproteinemia
Centre for Reviews and Dissemination databases -DARE & NHS EED (evaluates reliability of research)
Nice Guidance on Abetalipoproteinemia
Prodigy Guidance on Abetalipoproteinemia
Other Wikis
Medpedia on Abetalipoproteinemia (Less technical, good quality control)
Wikipedia on Abetalipoproteinemia (Less technical, ? quality control)

Caused by defects in microsomal triglyceride transfer protein (MTP) gene at 4q22-q24.

Clinical Picture

Lipid metabolism

  • Defective intestinal absorption of lipids
  • ↓↓ cholesterol
  • No beta lipoprotein

Oral vitamin A therapy may prevent the retinal problems and liver transplantation other problems

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